Linked Data
ClinVar Variation Id:
2100769
ClinVar RCV Id:
RCV003033578
dbSNP Id:
rs201910118
ExAC:
12:32949225 T / A
gnomAD v2:
12-32949225-T-A
gnomAD v3:
12-32796291-T-A
gnomAD v4:
12-32796291-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32796291T>A , CM000674.2:g.32796291T>A | GRCh38 |
| NC_000012.11:g.32949225T>A , CM000674.1:g.32949225T>A | GRCh37 |
| NC_000012.10:g.32840492T>A | NCBI36 |
| NG_009000.1:g.105556A>T , LRG_398:g.105556A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.678A>T | ||
| ENST00000700557.2:n.267A>T | ||
| ENST00000700559.2:c.2168-3560A>T | ENSP00000515065.2:n.2168-3560A>T | |
| ENST00000546498.2:n.862A>T | ||
| ENST00000549461.2:n.667A>T | ||
| ENST00000700555.1:c.606A>T | ENSP00000515062.1:p.Glu202Asp | |
| ENST00000700556.1:c.646A>T | ||
| ENST00000700557.1:c.186A>T | ENSP00000515064.1:p.Glu62Asp | |
| ENST00000700558.1:n.389A>T | ||
| ENST00000700559.1:c.1383-3560A>T | ||
| ENST00000700560.1:n.1390A>T | ||
| ENST00000700561.1:n.1516A>T | ||
| ENST00000070846.11:c.2307A>T | ENSP00000070846.6:p.Glu769Asp | |
| ENST00000340811.9:c.2175A>T MANE Select | ENSP00000342800.5:p.Glu725Asp | |
| ENST00000070846.10:c.2307A>T | ENSP00000070846.6:p.Glu769Asp | |
| ENST00000340811.8:c.2175A>T | ENSP00000342800.4:p.Glu725Asp | |
| ENST00000613243.1:c.2307A>T | ENSP00000478295.1:p.Glu769Asp | |
| NM_001005242.2:c.2175A>T | NP_001005242.2:p.Glu725Asp | |
| NM_004572.3:c.2307A>T , LRG_398t1:c.2307A>T | NP_004563.2:p.Glu769Asp | |
| NM_001005242.3:c.2175A>T MANE Select | NP_001005242.2:p.Glu725Asp | |
| NM_004572.4:c.2307A>T | NP_004563.2:p.Glu769Asp |